Download
6_s11033-023-08748-z-1.pdf 1,57MB
WeightNameValue
1000 Titel
  • Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling
1000 Autor/in
  1. Huebner, Tatjana |
  2. Steffens, Michael |
  3. Scholl, Catharina |
1000 Erscheinungsjahr 2023
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2023-10-03
1000 Erschienen in
1000 Quellenangabe
  • 50(11):9587-9599
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2023
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s11033-023-08748-z |
1000 Ergänzendes Material
  • https://link.springer.com/article/10.1007/s11033-023-08748-z#Sec10 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Background Analytical validity is a prerequisite to use a next generation sequencing (NGS)-based application as an in vitro diagnostic test or a companion diagnostic in clinical practice. Currently, in the United States and the European Union, the intended use of such NGS-based tests does not refer to guided drug therapy on the basis of pharmacogenetic profiling of drug metabolizing enzymes, although the value of pharmacogenetic testing has been reported. However, in research, a large variety of NGS-based tests are used and have been confirmed to be at least comparable to array-based testing. Methods and Results A systematic evaluation was performed screening and assessing published literature on analytical validation of NGS applications for pharmacogenetic profiling of CYP2C9, CYP2C19, CYP2D6, VKORC1 and/or UGT1A1. Although NGS applications are also increasingly used for implementation assessments in clinical practice, we show in the present systematic literature evaluation that published information on the current status of analytical validation of NGS applications targeting drug metabolizing enzymes is scarce. Furthermore, a comprehensive performance evaluation of whole exome and whole genome sequencing with the intended use for pharmacogenetic profiling has not been published so far. Conclusions A standard in reporting on analytical validation of NGS-based tests is not in place yet. Therefore, many relevant performance criteria are not addressed in published literature. For an appropriate analytical validation of an NGS-based qualitative test for pharmacogenetic profiling at least accuracy, precision, limit of detection and specificity should be addressed to facilitate the implementation of such tests in clinical use.
1000 Sacherschließung
lokal PGx
lokal Profiling
lokal Whole genome sequencing
lokal Analytical validation
lokal WES
lokal NGS
lokal Performance
lokal Third generation sequencing
lokal Pharmacogenomics
lokal Whole exome sequencing
lokal Next generation sequencing
lokal WGS
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0003-4548-1234|https://frl.publisso.de/adhoc/uri/U3RlZmZlbnMsIE1pY2hhZWw=|https://frl.publisso.de/adhoc/uri/U2Nob2xsLCBDYXRoYXJpbmE=
1000 Label
1000 Förderer
  1. Bundesministerium für Gesundheit |
  2. Projekt DEAL |
1000 Fördernummer
  1. ZMVI1-2519FSB404
  2. -
1000 Förderprogramm
  1. -
  2. Open Access funding
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer Bundesministerium für Gesundheit |
    1000 Förderprogramm -
    1000 Fördernummer ZMVI1-2519FSB404
  2. 1000 joinedFunding-child
    1000 Förderer Projekt DEAL |
    1000 Förderprogramm Open Access funding
    1000 Fördernummer -
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6472872.rdf
1000 Erstellt am 2023-12-28T11:20:34.970+0100
1000 Erstellt von 280
1000 beschreibt frl:6472872
1000 Bearbeitet von 317
1000 Zuletzt bearbeitet 2024-01-02T08:38:55.876+0100
1000 Objekt bearb. Tue Jan 02 08:38:41 CET 2024
1000 Vgl. frl:6472872
1000 Oai Id
  1. oai:frl.publisso.de:frl:6472872 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

View source